Suchergebnisse - NAKASHIMA, Mitsuko

The Cranial Base Fracture after the Caldwell-Luc Operation von Iwao, Atsuhiko, Nakashima, Mitsuko, Yano, Hiroki

Volltext Volltext Volltext

Possible involvement of NEDD4 in keloid formation; its critical role in fibroblast proliferation and collagen production von CHUNG, Suyoun, NAKASHIMA, Mitsuko, ZEMBUTSU, Hitoshi, NAKAMURA, Yusuke

Volltext Volltext Volltext

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences von Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo

Volltext Volltext Volltext

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder von Hiraide, Takuya, Watanabe, Seiji, Matsubayashi, Tomoko, Yanagi, Kumiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo

Volltext Volltext Volltext

Two novel heterozygous variants in ATP1A3 cause movement disorders von Furukawa, Shogo, Miyamoto, Sachiko, Fukumura, Shinobu, Kubota, Kazuo, Taga, Toshiaki, Nakashima, Mitsuko, Saitsu, Hirotomo

Volltext Volltext Volltext

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3 von Abe, Kazuo, Ando, Kumiko, Kato, Mitsuhiro, Saitsu, Hirotomo, Nakashima, Mitsuko, Aoki, Shintaro, Kimura, Takashi

Volltext Volltext Volltext

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder von Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

Volltext Volltext Volltext

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease von Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, Hirotomo

Volltext Volltext Volltext

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant von Sugawara, Yuji, Mizuno, Tomoko, Moriyama, Kengo, Ishiwata, Hisako, Kato, Mitsuhiro, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi

Volltext Volltext Volltext

Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case Report von Kakizawa, Keisuke, Yamashita, Miho, Nakashima, Mitsuko, Kawauchi, Yuto, Ikeya, Akira, Matsushita, Akio, Sasaki, Shigekazu, Oki, Yutaka

Volltext Volltext Volltext

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia von Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi

Volltext Volltext Volltext

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant von Fukuoka, Masataka, Okazaki, Shin, Kim, Kiyohiro, Nukui, Megumi, Inoue, Takeshi, Kuki, Ichiro, Kawawaki, Hisashi, Nakashima, Mitsuko, Matsumoto, Naomichi

Volltext Volltext Volltext

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review von Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo

Volltext Volltext Volltext

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant von Ikeya, Akira, Nakashima, Mitsuko, Yamashita, Miho, Kakizawa, Keisuke, Okawa, Yuta, Saitsu, Hirotomo, Sasaki, Shigekazu, Sasano, Hironobu, Suda, Takafumi, Oki, Yutaka

Volltext Volltext Volltext

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome von Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi

Volltext Volltext Volltext

A novel PITX2 mutation causing iris hypoplasia von Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Nakashima, Mitsuko

Volltext Volltext Volltext

An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family von Tatematsu, Tadashi, Kimura, Masashi, Nakashima, Mitsuko, Machida, Junichiro, Yamaguchi, Seishi, Shibata, Akio, Goto, Hiroki, Nakayama, Atsuo, Higashi, Yujiro, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Tokita, Yoshihito

Volltext Volltext Volltext

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome von Imagawa, Eri, Fukai, Ryoko, Behnam, Mahdiyeh, Goyal, Manisha, Nouri, Narges, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Salehi, Mansour, Kapoor, Seema, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi

Volltext Volltext Volltext

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination von Miyamoto, Sachiko, Nakashima, Mitsuko, Ohashi, Tsukasa, Hiraide, Takuya, Kurosawa, Kenji, Yamamoto, Toshiyuki, Takanashi, Junichi, Osaka, Hitoshi, Inoue, Ken, Miyazaki, Takehiro, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo

Volltext Volltext Volltext

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review von Arisaka, Atsuko, Nakashima, Mitsuko, Kumada, Satoko, Inoue, Kenji, Nishida, Hiroya, Mashimo, Hideaki, Kashii, Hirofumi, Kato, Mitsuhiro, Maruyama, Koichi, Okumura, Akihisa, Saitsu, Hirotomo, Matsumoto, Naomichi, Fukuda, Mitsumasa

Volltext Volltext Volltext